Gene Summary

Name:
protein arginine N-methyltransferase 7
Synonyms:
4933402B05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased erythrocyte cell number Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 2.05×10-10
decreased lean body mass Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 2.28×10-05
decreased bone mineral content Prmt7tm1a(EUCOMM)Wtsi HOM   Early adult 7.36×10-05
abnormal behavior Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 1.29×10-10
abnormal rib morphology Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 8.01×10-08
decreased hematocrit Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 5.52×10-07
decreased hemoglobin content Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 1.17×10-09
decreased body length Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 1.23×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

View all 146 images

Human diseases caused by Prmt7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Prmt7 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity, Failure to thrive OMIM:617157
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288

The table below shows human diseases predicted to be associated to Prmt7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormal rib morphology ORPHA:3268
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Hypophosphatasia
Narrow chest, Failure to thrive in infancy, Abnormal rib morphology, Anemia, Craniosynostosis ORPHA:436
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Reduced bone mine... ORPHA:848
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Obesity, Bell-shaped thorax, Horizontal ribs, Lateral clavicle ... OMIM:615633
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Missing ribs, Anterior rib cupping, Short thorax, Lateral clavicle hook ORPHA:1801
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma... OMIM:263400
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis,... OMIM:122860
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Abnormal cortical bone morphology, Decreased skul... ORPHA:2097
Shwachman-Diamond Syndrome 1
Narrow chest, Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Irregular ossificatio... OMIM:260400
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs OMIM:617405
Metatropic Dysplasia
Narrow chest, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Abnormal co... ORPHA:2635
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... OMIM:616943
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Pectus excavatum, Abnormal clavicle morphology, Abnormal rib mo... ORPHA:2522
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal rib morphology ORPHA:1354
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Kenny-Caffey Syndrome, Type 1
Thin ribs, Decreased skull ossification, Calvarial osteosclerosis, Anemia, Long clavicles, Thin c... OMIM:244460
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Abnormal rib morphology ORPHA:2643
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal sternum morphology, Abnormal r... ORPHA:474
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Abnormal rib morphology ORPHA:1703
Thoracolaryngopelvic Dysplasia
Slender build, Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions OMIM:187760
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology, Decreased skull ossification ORPHA:93267
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Short thorax ORPHA:93298
Axial Spondylometaphyseal Dysplasia
Osteopenia, Narrow chest, Thoracic hypoplasia, Flaring of lower rib cage, Short ribs, Deformed ri... ORPHA:168549
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Pectus carinatum, HbH hemoglobin, Failure to thrive ORPHA:98791
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Lymphangiectasia, Intestinal
Prominent floating ribs, Lymphopenia OMIM:152800
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Bell-shaped thorax, Horizontal ribs, Thrombocytopenia, Neutropenia, Normochrom... OMIM:614857
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Failure to thrive in infancy, Broad ribs, Splenomegaly, Flaring of rib c... OMIM:612852
Osteogenesis Imperfecta, Type Ix
Multiple rib fractures, Pectus carinatum, Pectus excavatum, Decreased calvarial ossification OMIM:259440
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Supernumerary vertebral ossification centers OMIM:609813
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Posterior rib fusion, Abnormal rib morphology, Short thorax ORPHA:1797
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Abnormal rib morphology ORPHA:93941
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Bell-shaped tho... OMIM:200600
Achondrogenesis Type 1A
Multiple rib fractures, Narrow chest, Abnormal enchondral ossification, Short thorax ORPHA:93299
Osteogenesis Imperfecta, Type Ii
Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Absent ossification o... OMIM:166210
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Decreased calvarial ossification ORPHA:2772
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Renpenning Syndrome
Pectus excavatum, Cachexia, Sprengel anomaly, Abnormal rib morphology ORPHA:3242
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Thoracic hypoplasia, Short ribs OMIM:614524
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231214
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Poland Syndrome
Rib fusion, Sprengel anomaly, Short ribs OMIM:173800
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Pectus carinatum, Abnormal rib morphology ORPHA:93351
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology ORPHA:2345
Metatropic Dysplasia
Narrow chest, Abnormal enchondral ossification, Short ribs, Cupped ribs, Flaring of rib cage, Cla... OMIM:156530
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal rib morphology ORPHA:1486
Sprengel Deformity
Sprengel anomaly, Rib segmentation abnormalities OMIM:184400
Melnick-Needles Syndrome
Craniofacial hyperostosis, Narrow chest, Abnormal rib morphology, Abnormal cortical bone morpholo... ORPHA:2484
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Decreased skull ossification, Calvarial osteosclerosis, Cortical thickening of long bo... ORPHA:93324
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Abnormal rib morphology ORPHA:2145
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Obesity, Eunuchoid habitus, Abnormal rib morphology ORPHA:2234
Cooper-Jabs Syndrome
Missing ribs, Reduced bone mineral density, Abnormal rib morphology ORPHA:1488
Diastrophic Dysplasia
Increased bone mineral density, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:628
Becker Nevus Syndrome
Rib fusion, Pectus carinatum, Supernumerary ribs, Pectus excavatum ORPHA:64755
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... OMIM:617052
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Craniosynostosis, Decreased calvarial ossification, Decreased body weight OMIM:618265
Congenital Disorder Of Glycosylation, Type Iig
Posterior rib gap, Osteopenia, Giant platelets, Failure to thrive in infancy, Thoracic scoliosis,... OMIM:611209
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity, Sprengel anomaly, Abnormal rib morphology ORPHA:2180
Greenberg Dysplasia
Fractured rib, Ectopic ossification, Narrow chest, Thoracic hypoplasia, Abnormal scapula morpholo... OMIM:215140
Gracile Bone Dysplasia
Thin ribs, Failure to thrive, Decreased skull ossification, Asplenia, Hypoplastic spleen OMIM:602361
White Forelock With Malformations
Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Thoracic hypoplasia, Horizontal ribs, Short ribs, Lateral clavicle hook OMIM:617895
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Femoral-Facial Syndrome
Rib fusion, Sprengel anomaly, Abnormal rib morphology ORPHA:1988
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Sprengel anomaly, Abnormal rib morphology, ... ORPHA:392
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Thoracic hypoplasia, Short ribs, Decreased skull ossification, Multiple rib fractures... OMIM:616897
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Fibrochondrogenesis
Narrow chest, Hypoplastic scapulae, Broad ribs, Bell-shaped thorax, Short ribs, Abnormal rib morp... ORPHA:2021
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Persistence of hemoglobin F OMIM:619769
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Osteogenesis Imperfecta, Type X
Thin ribs, Osteopenia, Narrow chest, Thoracic hypoplasia, Broad ribs, Decreased calvarial ossific... OMIM:613848
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, 11 pairs of ribs, Decreased skull ossification OMIM:300863
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Splenomegaly, Dense calvaria OMIM:252920
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Narrow chest, Undulate ribs, Splenic cyst, Short ribs, Subp... OMIM:618188
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Pectus carinatum, Abnormal rib morphology ORPHA:3068
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Splenomegaly, Dense calvaria OMIM:252900
Cartilage-Hair Hypoplasia
Pectus carinatum, Narrow chest, Failure to thrive, Short thorax, Abnormal rib morphology, Flaring... ORPHA:175
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia ORPHA:99867
Diamond-Blackfan Anemia 1
Narrow chest, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, ... OMIM:105650
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Multiple rib fractures, Osteopetrosis, Anemia OMIM:612301
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal rib morphology ORPHA:2759
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Narrow chest, Decreased calvarial ossification, Multiple rib fractures, Small for ges... OMIM:616229
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology OMIM:601076
Lead Poisoning
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia, Small ... ORPHA:330015
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Narrow chest, Abnormal thorax morphology, Hyperostosis, Generalized bone demineralizat... ORPHA:73230
Aspergillosis
Eosinophilia, Neutropenia, Abnormal rib morphology ORPHA:1163
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Abnormal rib morphology ORPHA:3082
Prune Belly Syndrome
Pectus excavatum, Failure to thrive, Abnormal rib morphology ORPHA:2970
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Thin ribs, Pectus excavatum OMIM:616294
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Thoracolumbar kyphosis, Narrow chest, Thoracic hypoplasia, Decreased cranial base ossi... OMIM:151210
Autosomal Recessive Spondylocostal Dysostosis
Rib fusion, Rib segmentation abnormalities, Abnormal rib morphology, Short thorax ORPHA:2311
Dysosteosclerosis
Osteopenia, Narrow chest, Sclerosis of hand bone, Broad ribs, Sclerosis of skull base, Sclerotic ... OMIM:224300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Coat hanger sign of ribs, Small for gestational age, Thoracic hypoplasia ORPHA:254534
Fibrous Dysplasia Of Bone
Rickets, Abnormal clavicle morphology, Abnormal rib morphology, Osteomalacia, Cortical irregulari... ORPHA:249
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Thoracic hypoplasia, Posterior rib cupping, Short ribs, Anterior... OMIM:228520
Pseudo-Torch Syndrome 2
Thin ribs, Thrombocytopenia OMIM:617397
Three M Syndrome 2
Thin ribs, Pectus carinatum, Scapular winging, Short thorax, Small for gestational age OMIM:612921
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs OMIM:200610
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Distal ulnar epiphyseal stippling, Delayed ossification of carpal bones OMIM:609616
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Abnormality of the spleen, Abnormal rib morphology ORPHA:1834
Cleidocranial Dysplasia
Hypoplastic scapulae, Narrow chest, Down-sloping shoulders, Decreased skull ossification, Short c... ORPHA:1452
Mucopolysaccharidosis Type 4
Pectus carinatum, Reduced bone mineral density, Abnormal rib morphology, Short thorax ORPHA:582
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Short ribs ORPHA:1145
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Splenomegaly, Dense calvaria OMIM:252930
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Generalized osteoporosis, Thin bony cortex OMIM:617952
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad ribs, Increased bone mineral density, Thin bony cortex ORPHA:85184
Trisomy 13
Narrow chest, Abnormal rib morphology ORPHA:3378
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Sclerosis of skull base, Horizo... ORPHA:3003
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology ORPHA:1836
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Missing ribs, Rib fusion, Short thorax, Pectus excavatum OMIM:613686
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
Antley-Bixler Syndrome
Craniosynostosis, Narrow chest, Abnormal rib morphology ORPHA:83
Osteogenesis Imperfecta, Type Iii
Thin ribs, Severe generalized osteoporosis, Decreased calvarial ossification OMIM:259420
Kagami-Ogata Syndrome
Thin ribs, Long clavicles, Bell-shaped thorax, Splenomegaly OMIM:608149
3M Syndrome
Thin ribs, Horizontal ribs, Scapular winging, Short thorax, Enlarged thorax ORPHA:2616
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Obesity, Delayed ossification of carpal bones OMIM:618395
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Abnormal rib morphology OMIM:118100
Spondylocostal Dysostosis 1, Autosomal Recessive
Rib fusion OMIM:277300
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3301
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Decreased body weight OMIM:614833
Osteogenesis Imperfecta, Type Xv
Thin ribs OMIM:615220
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Splenomegaly, Osteopetrosis, Abnormal rib morphology, Anemia, Craniosynostosis, Red... ORPHA:667
Juberg-Hayward Syndrome
Abnormal rib morphology ORPHA:2319
Poland Syndrome
Asymmetry of the thorax, Pectus carinatum, Acute leukemia, Abnormal sternum morphology, Aplasia/H... ORPHA:2911
Oculocerebrocutaneous Syndrome
Missing ribs, Abnormal rib morphology ORPHA:1647
Nestor-Guillermo Progeria Syndrome
Thin ribs, Failure to thrive, Mandibular osteolysis, Osteoporosis, Osteolytic defects of the dist... OMIM:614008
Mucopolysaccharidosis Type 6
Broad ribs, Splenomegaly, Failure to thrive ORPHA:583
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Osteopenia, Eunuchoid habitus, Abnormal bone ossification, Pectus excavatum ORPHA:2463
Mucopolysaccharidosis, Type Iva
Osteoporosis, Prominent sternum, Pectus carinatum, Flaring of rib cage OMIM:253000
Trisomy 1Q
Abnormal rib morphology, Short thorax ORPHA:261344
Osteogenesis Imperfecta, Type Viii
Thin ribs, Osteopenia, Barrel-shaped chest, Decreased calvarial ossification, Decreased skull oss... OMIM:610915
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Prominent sternum, Anterior rib cupping, Thoracic kyphosis OMIM:300232
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Eiken Syndrome
Delayed epiphyseal ossification, Broad ribs, Decreased body weight, Delayed tarsal ossification, ... OMIM:600002
Osteopetrosis With Renal Tubular Acidosis
Prominent floating ribs, Failure to thrive, Pancytopenia, Leukopenia, Osteopetrosis, Thrombocytop... ORPHA:2785
Sclerosteosis 1
Broad clavicles, Facial palsy secondary to cranial hyperostosis, Broad ribs, Sclerotic scapulae, ... OMIM:269500
Lethal Congenital Contracture Syndrome 5
Thin ribs, Small for gestational age OMIM:615368
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Flat glenoid fossa, Obesity, Short ribs, Cupped ribs, Irregular chondrocostal junctions OMIM:250420
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Sprengel anomaly ORPHA:958
Osteogenesis Imperfecta
Thin ribs, Osteopenia, Pectus carinatum, Narrow chest, Thoracic hypoplasia, Abnormal cortical bon... ORPHA:666
Alpha-Mannosidosis, Infantile Form
Osteopenia, Pectus carinatum, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Pectus exca... ORPHA:309282
Dyggve-Melchior-Clausen Disease
Pectus carinatum, Failure to thrive, Broad ribs, Glenoid fossa hypoplasia, Horizontal inferior bo... ORPHA:239
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Osteopenia, Pectus carinatum, Supernumerary ribs, Craniosynostosis, Pectus excavatum, ... OMIM:182212
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Large for gestational age ORPHA:169189
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs ORPHA:456328
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Craniosynostosis, Obesity, Failure to thrive ORPHA:261197
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Narrow chest, Broad ribs, Thoracic scoliosis OMIM:617022
Familial Osteodysplasia, Anderson Type
Missing ribs, Aplastic clavicle, Abnormal cortical bone morphology, Abnormal rib morphology ORPHA:2769
Cerebrofaciothoracic Dysplasia
Rib fusion, Narrow chest, Sprengel anomaly, Bifid ribs ORPHA:1394
Garg-Mishra Progeroid Syndrome
Thin ribs, Narrow chest OMIM:620601
Gm1-Gangliosidosis, Type I
Vacuolated lymphocytes, Thickened ribs, Splenomegaly OMIM:230500
Craniometadiaphyseal Dysplasia
Osteopenia, Sclerosis of skull base, Broad ribs OMIM:269300
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Abnormal rib morphology ORPHA:2215
Basal Cell Nevus Syndrome 1
Abnormal sternum morphology, Down-sloping shoulders, Supernumerary ribs, Short ribs, Sprengel ano... OMIM:109400
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology ORPHA:1120
Meier-Gorlin Syndrome 1
Thin ribs, Abnormal rib cage morphology, Pectus carinatum, Small for gestational age, Flat glenoi... OMIM:224690
Severe Congenital Nemaline Myopathy
Thin ribs, Abnormal thorax morphology ORPHA:171430
Schwartz-Jampel Syndrome
Pectus carinatum, Shoulder flexion contracture, Decreased body weight, Cachexia, Sprengel anomaly... ORPHA:800
Phaver Syndrome
Abnormal rib morphology ORPHA:2876
X-Linked Hypophosphatemia
Rachitic rosary, Rickets, Multiple rib fractures, Generalized osteosclerosis, Craniosynostosis, E... ORPHA:89936
Cenani-Lenz Syndrome
Abnormal rib morphology ORPHA:3258
Mucopolysaccharidosis, Type X
Broad clavicles, Broad ribs, Spatulate ribs OMIM:619698
Gorlin Syndrome
Rib fusion, Bifid ribs, Anterior rib cupping, Abnormal rib morphology ORPHA:377
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Prominent sternum, Flaring of rib cage OMIM:253010
Short-Rib Thoracic Dysplasia 12
Narrow chest, Hypoplastic scapulae, Thoracic dysplasia, Splenomegaly, Horizontal ribs, Short ribs... OMIM:269860
Alagille Syndrome
Failure to thrive, Abnormal rib morphology ORPHA:52
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Epiphyseal stippling of toe phalanges, Epiphyseal stip... ORPHA:79345
Dextrocardia
Abnormality of the spleen, Abnormal rib morphology ORPHA:1666
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Narrow chest, Failure to thrive, Abnormal rib morphology ORPHA:90652
Xylt1-Cdg
Short clavicles, Broad ribs, Truncal obesity ORPHA:370930
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Early ossification of capital femoral epiphyses, Horizontal rib... OMIM:208500
Cerebrocostomandibular Syndrome
Posterior rib gap, Thoracic hypoplasia, Rib gap, Anomalous rib insertion to vertebrae, Bell-shape... OMIM:117650
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Broad ribs, Short ribs OMIM:252600
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Failure to thrive, Broad ribs, Sclerosis of skull base, Hypoplas... OMIM:269150
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Short ribs, Decreased calvarial ossification, Short sternum OMIM:620076
Hurler Syndrome
Abnormal clavicle morphology, Splenomegaly, Abnormal rib morphology ORPHA:93473
Cantú Syndrome
Osteoporosis, Narrow chest, Broad ribs ORPHA:1517
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Glenoid fossa hypoplasia, Short ribs, Short clavicles, Craniosyn... OMIM:600920
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Shoulder flexion contracture, Thoracic hypoplasia, Thoracic scoliosis, Scapular wingin... OMIM:620369
Premature Aging Syndrome, Penttinen Type
Thin ribs, Failure to thrive, Cervical ribs, Osteoporosis, Osteolytic defects of the distal phala... OMIM:601812
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Abnormal clavicle morphology, Splenomegaly, Abnormal rib morphology, R... ORPHA:581
Myotubular Myopathy With Abnormal Genital Development
Thin ribs OMIM:300219
Ellis-Van Creveld Syndrome
Pectus carinatum, Narrow chest, Horizontal ribs, Short ribs OMIM:225500
Multiple Pterygium Syndrome, X-Linked
Thin ribs OMIM:312150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Pectus excavatum, Prominent sternum, Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254528
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs ORPHA:163966
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Osteopenia, Supernumerary ribs, Osteolytic defects of the phalanges of the hand, Eleva... OMIM:619127
Cole-Carpenter Syndrome
Abnormal rib morphology ORPHA:2050
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Large for gestational age, Rib fusion, Sprengel anomaly, Bifid ribs, Craniosynostos... OMIM:213980
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Narrow chest, Abnormality of the costochondral junction, Thoracic hypoplasi... ORPHA:96334
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Unicoronal synostosis, Bell-shaped thorax, Horizontal ribs, Short ribs OMIM:616300
Autosomal Recessive Multiple Pterygium Syndrome
Rib fusion, Pectus excavatum, Failure to thrive, Abnormal sternum morphology ORPHA:2990
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pectus carinatum, Narrow chest, Thoracic dysplasia, Horizontal ribs, Short ribs, Lateral clavicle... OMIM:263520
Hallermann-Streiff Syndrome
Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Pectus... OMIM:234100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Long thorax, Horizontal ribs, Short ribs, Decreased calvarial ossification, Lateral... OMIM:617925
Mosaic Trisomy 8
Narrow chest, Abnormal rib morphology ORPHA:96061
Occipital Horn Syndrome
Broad clavicles, Narrow chest, Pectus carinatum, Broad ribs, Short clavicles, Osteoporosis, Pectu... OMIM:304150
Acrocapitofemoral Dysplasia
Pectus carinatum, Narrow chest, Short ribs, Cupped ribs, Pectus excavatum, Delayed ossification o... OMIM:607778
Multiple Pterygium Syndrome, Lethal Type
Thin ribs OMIM:253290
Pontine Tegmental Cap Dysplasia
Rib fusion, Failure to thrive OMIM:614688
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Rib fusion, Missing ribs, Short ribs OMIM:271520
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Thoracic hypoplasia, Short ribs, Horizontal ribs OMIM:613091
Vacterl/Vater Association
Abnormal rib morphology ORPHA:887
Osteopathia Striata With Cranial Sclerosis
Thoracolumbar kyphosis, Craniofacial osteosclerosis, Failure to thrive, Broad ribs, Sclerosis of ... OMIM:300373
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Abnormal rib cage morphology, 11 pairs of ribs, Decreased body weight, Cupped ribs, Flaring of ri... OMIM:271640
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Coat hanger sign of ribs, Scapular wi... OMIM:305620
Monosomy 9Q22.3
Pectus excavatum, Large for gestational age, Abnormal rib morphology ORPHA:77301
Oculocerebrorenal Syndrome Of Lowe
Failure to thrive, Osteomalacia, Thrombocytopenia, Abnormal rib morphology, Anemia ORPHA:534
Kyphomelic Dysplasia
Undulate ribs, Thoracic hypoplasia, Anterior rib cupping, Lateral clavicle hook OMIM:211350
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Thickened cortex of long bones, Abnormal rib morphology ORPHA:488434
Kagami-Ogata Syndrome
Large for gestational age, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254519
Kindler Epidermolysis Bullosa
Anemia, Abnormal rib morphology ORPHA:2908
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Large for gestational age ORPHA:544488
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Splenomegaly, Thoracic scoliosis OMIM:252940
Alkaptonuria
Methemoglobinemia, Reduced bone mineral density, Hemolytic anemia ORPHA:56
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar kyphosis, Hyposegmentation of neutrophil nuclei, Thoracic hypoplasia, Horizontal ribs OMIM:618019
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Abnormal scapula morphology, Abnormal rib morphology ORPHA:93317
Trisomy 18
Cachexia, Abnormal rib morphology ORPHA:3380
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Pectus carinatum, Hypoplastic scapulae, Failure to th... OMIM:114290
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Narrow chest, 11 pairs of ribs, Short ribs, Cupped ribs, Horizon... OMIM:250220
Stuve-Wiedemann Syndrome 1
Osteoporosis, Thickened cortex of long bones, Thin ribs OMIM:601559
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Aplastic clavicle, Failure to thrive, Abnormal rib morphology ORPHA:2554
Mucopolysaccharidosis, Type Vi
Pectus carinatum, Prominent sternum, Splenomegaly, Broad ribs OMIM:253200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Craniosynostosis, Hypoplastic scapulae, Narrow chest, Abnormal rib morphology ORPHA:95699
Multiple Pterygium Syndrome, Escobar Variant
Rib fusion, Long clavicles, Dysplastic patella, Down-sloping shoulders OMIM:265000
Weill-Marchesani Syndrome 1
Broad ribs, Thin bony cortex OMIM:277600
Myhre Syndrome
Craniofacial hyperostosis, Abnormal rib morphology ORPHA:2588
Cranioectodermal Dysplasia 2
Narrow chest, Polysplenia, Splenomegaly, Horizontal ribs, Short ribs, Craniosynostosis, Pectus ex... OMIM:613610
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology ORPHA:1300
Pagod Syndrome
Abnormality of the spleen, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Aicardi Syndrome
Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs ORPHA:50
Cog1-Cdg
Posterior rib gap, Osteopenia, Failure to thrive, Hepatosplenomegaly, Rib fusion ORPHA:263508
Radio-Renal Syndrome
Abnormal rib morphology ORPHA:3015
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Failure to thrive, Broad ribs, Progressive sclerosis of skull base OMIM:151050
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad ribs, Hepatosplenomegaly, Obesity OMIM:301066
Wolf-Hirschhorn Syndrome
Failure to thrive, Abnormal thorax morphology, Rib segmentation abnormalities, Rib fusion, Osteop... ORPHA:280
Fryns Syndrome
Thin ribs, Thoracic hypoplasia, Polysplenia, Broad ribs, Large for gestational age OMIM:229850
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Coronal craniosynostosis, Failure to thrive, B lymphocytopenia, Severe B lymphocytopen... ORPHA:83617
Aicardi Syndrome
Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs OMIM:304050
Acrorenal-Mandibular Syndrome
Thin ribs, Narrow chest, Hypoplastic scapulae, Missing ribs OMIM:200980
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Splenomegaly, Horizontal ribs, Short ribs, Short clavicles OMIM:617088
Coccidioidomycosis
Abnormality of the spleen, Eosinophilia, Osteolysis, Broad ribs ORPHA:228123
Kbg Syndrome
Rib fusion, Cervical ribs, Thoracic kyphosis OMIM:148050
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Splenomegaly, Polysplenia, Abnormal rib morphology ORPHA:373
Osteogenesis Imperfecta, Type Vii
Osteopenia, Narrow chest, Decreased calvarial ossification, Multiple rib fractures, Pectus excavatum OMIM:610682
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Microphthalmia, Syndromic 3
Missing ribs, Supernumerary ribs, Rib fusion OMIM:206900
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Failure to thrive in infancy, Broad ribs, Sclerosis of skull base, ... ORPHA:798
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteoporosis, Osteopenia, Thin ribs OMIM:225400
Weill-Marchesani Syndrome 2
Broad ribs, Thin bony cortex OMIM:608328
Restrictive Dermopathy
Thin ribs, Osteopenia, Increased anterioposterior diameter of thorax, Aplasia/Hypoplasia of the c... ORPHA:1662
Smith-Lemli-Opitz Syndrome
Abnormal rib morphology ORPHA:818
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs ORPHA:85167
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short clavicles, Craniosynostosis, Undulate ribs, Pectus excavatum OMIM:609945
Autosomal Recessive Robinow Syndrome
Rib fusion, Pectus carinatum, Pectus excavatum ORPHA:1507
Craniotubular Dysplasia, Ikegawa Type
Broad ribs, Sclerosis of skull base, Thin bony cortex OMIM:619727
Zttk Syndrome
Rib fusion, Craniosynostosis, Failure to thrive, Cervical ribs OMIM:617140
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs OMIM:608940
1P36 Deletion Syndrome
Failure to thrive, Abnormality of the spleen, Obesity, 11 pairs of ribs, Rib fusion, Bifid ribs ORPHA:1606
Pallister-Hall Syndrome
Rib fusion OMIM:146510
Robinow Syndrome, Autosomal Recessive 1
Rib fusion, Pectus excavatum, Missing ribs OMIM:268310
Monosomy 9P
Abnormal rib morphology ORPHA:261112
Wolf-Hirschhorn Syndrome
Accessory spleen, Failure to thrive, Rib segmentation abnormalities, Rib fusion, Abnormal sternal... OMIM:194190
Alagille Syndrome 1
Failure to thrive, Abnormal rib morphology OMIM:118450
Charge Syndrome
Abnormality of bone mineral density, Abnormal rib morphology ORPHA:138
Robinow Syndrome
Missing ribs, Rib fusion, Small for gestational age ORPHA:97360
Myhre Syndrome
Broad ribs, Obesity, Small for gestational age OMIM:139210
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Pectus carinatum, Broad clavicles, Broad ribs, Barrel-shaped chest, Decreased calvarial ossificat... OMIM:276820
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Thickened ribs, Splenomegaly ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Thickened ribs, Splenomegaly ORPHA:217093
Ulbright-Hodes Syndrome
Thin ribs, Short sternum, Abnormal rib morphology, Short ribs ORPHA:3404
Vater/Vacterl Association
Failure to thrive, Abnormal sternum morphology, Abnormal rib morphology OMIM:192350
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Narrow chest, Failure to thrive, Hypoplasia of the thymus, Small for gestational age OMIM:264090
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Bicoronal synostosis, Rib fusion, Sagittal... OMIM:218600
Fetal Akinesia Deformation Sequence 1
Thin ribs, Small for gestational age, Thoracic hypoplasia OMIM:208150
Femoral-Facial Syndrome
Missing ribs, 11 pairs of ribs, Sprengel anomaly, Rib fusion OMIM:134780
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Rib fusion, Sagittal craniosynostosis, Cervical ribs ORPHA:500150
Charge Syndrome
Lymphopenia, Down-sloping shoulders, Abnormal rib morphology OMIM:214800
Chromosome 1P36 Deletion Syndrome, Distal
Rib fusion, Obesity, Bifid ribs, 11 pairs of ribs OMIM:607872
Cardiospondylocarpofacial Syndrome
Rib fusion, Failure to thrive OMIM:157800
Fraser Syndrome
Abnormal rib morphology ORPHA:2052
Townes-Brocks Syndrome
Failure to thrive, Abnormal rib morphology ORPHA:857
Pallister-Hall Syndrome
Rib fusion, Large for gestational age ORPHA:672
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity, Failure to thrive OMIM:617157
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Prmt7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prmt7.

There are 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The arginine methyltransferase PRMT7 promotes extravasation of monocytes resulting in tissue injury in COPD. Nature communications (March 2022) Prmt7tm1a(EUCOMM)Wtsi PMC8921220
PRMT7 ablation in cardiomyocytes causes cardiac hypertrophy and fibrosis through β-catenin dysregulation. Cellular and molecular life sciences : CMLS (January 2022) Prmt7tm1c(EUCOMM)Wtsi Prmt7tm1a(EUCOMM)Wtsi 35089423
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Prmt7tm1a(EUCOMM)Wtsi